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Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia.
Singh S, Shah H, Dalal A, Shukla A, Bhavani GS, Girisha KM. Singh S, et al. Among authors: bhavani gs. Am J Med Genet A. 2024 Apr 2:e63601. doi: 10.1002/ajmg.a.63601. Online ahead of print. Am J Med Genet A. 2024. PMID: 38562122
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.
Pande S, Majethia P, Nair K, Rao LP, Mascarenhas S, Kaur N, do Rosario MC, Neethukrishna K, Chaurasia A, Hunakunti B, Jadhav N, Xavier S, Kumar J, Bhat V, Bhavani GS, Narayanan DL, Yatheesha BL, Patil SJ, Nampoothiri S, Kamath N, Aroor S, Bhat Y R, Lewis LE, Sharma S, Bajaj S, Sankhyan N, Siddiqui S, Nayak SS, Bielas S, Girisha KM, Shukla A. Pande S, et al. Among authors: bhavani gs. Eur J Hum Genet. 2023 Dec 20. doi: 10.1038/s41431-023-01513-7. Online ahead of print. Eur J Hum Genet. 2023. PMID: 38114583
Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13.
Jacob P, Lindelöf H, Rustad CF, Sutton VR, Moosa S, Udupa P, Hammarsjö A, Bhavani GS, Batkovskyte D, Tveten K, Dalal A, Horemuzova E, Nordgren A, Tham E, Shah H, Merckoll E, Orellana L, Nishimura G, Girisha KM, Grigelioniene G. Jacob P, et al. Among authors: bhavani gs. NPJ Genom Med. 2023 Nov 22;8(1):39. doi: 10.1038/s41525-023-00380-x. NPJ Genom Med. 2023. PMID: 37993442 Free PMC article.
EXOC6B-Related Spondyloepimetaphyseal Dysplasia with Joint Laxity.
Bhavani GS, Singh S, Girisha KM. Bhavani GS, et al. 2023 May 25. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2023 May 25. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 37229238 Free Books & Documents. Review.
Deep intronic mutation in CRTAP results in unstable isoforms of the protein to induce type I collagen aggregation in a lethal type of osteogenesis imperfecta type VII.
Udupa P, Shrikondawar AN, Nayak SS, Shah H, Ranjan A, Girisha KM, Bhavani GS, Ghosh DK. Udupa P, et al. Among authors: bhavani gs. Biochim Biophys Acta Mol Basis Dis. 2023 Aug;1869(6):166741. doi: 10.1016/j.bbadis.2023.166741. Epub 2023 May 3. Biochim Biophys Acta Mol Basis Dis. 2023. PMID: 37146916
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